Cholesteryl ester storage disease (Q53741)

Cholesteryl ester storage disease is the term used to group together deficiencies in lysosomal acid lipase associated with a less severe clinical phenotype than that seen in Wolman disease (see this term), with a continuous clinical spectrum between early-onset and severe forms and those that are quasi-asymptomatic, which may reflect variations in the levels of residual acid lipase activity in vivo.